Phenotypes Associated with This Genotype

Genotype
MGI:4360672

• Allelic Composition: Nphs2^tm2.1Antc/Nphs2^tm2.1Antc
• Genetic Background: involves: 129S2/SvPas * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:152878 )

• median age of death is 4 days (range 1 - 40 days)

• Background Sensitivity: following 3 backcrosses to 129S2/SvPas mice the median age of death is increased to 14 days

perinatal lethality, incomplete penetrance ( J:152878 )

• fewer than expected homozygotes are found at birth suggesting prenatal or perinatal lethality

• Background Sensitivity: following 3 backcrosses to 129S2/SvPas mice no significant perinatal or prenatal lethality is detected

renal/urinary system

abnormal glomerular capillary morphology ( J:152878 )

• at P12 mesangial sclerosis is present reducing the patency of capillary lumina

abnormal glomerular capillary endothelium morphology ( J:152878 )

• widening of the sub-endothelial spaces due to endothelial cell swelling is seen resulting in uneven glomerular capillary wall thickening

abnormal glomerular endothelium fenestra morphology ( J:152878 )

• endothelial fenestrae are frequently replaced by a continuous cytoplasmic layer lining the periphery of the capillary loops

dilated glomerular capillary ( J:152878 )

• at P4 focal dilations of capillary lumina are seen

kidney hemorrhage ( J:152878 )

• at P4 surface hemorrhages corresponding to focal areas of interstitial hemorrhages in the superficial cortex and juxtamedullary areas are seen in the kidneys

albuminuria ( J:152878 )

• progressive albuminuria develops quickly after birth

abnormal podocyte morphology ( J:152878 )

• villous transformation and extensive vacuolization are seen

podocyte foot process effacement ( J:152878 )

absent podocyte slit diaphragm ( J:152878 )

• in rare areas where foot processes are preserved slit diaphragms are not visible

expanded mesangial matrix ( J:152878 )

• at P4 mesangial expansion is seen

• at P12 mesangial sclerosis is present reducing the patency of capillary lumina

mesangiolysis ( J:152878 )

• at P4 focal areas of mesangiolysis are seen

• at P12 mesangiolysis is worse

• irregular edematous infiltration of the mesangial strands and focal detachment of mesangial cells are present

glomerulosclerosis ( J:152878 )

• at P12 retraction of some sclerotic glomeruli is observed without adhesions to Bowman's capsule

• diffuse and global glomerulosclerosis and severe tubulointerstitial lesions are seen at P32

abnormal renal tubule morphology ( J:152878 )

• protein droplets are seen along with focal tubular dilations

abnormal proximal convoluted tubule morphology ( J:152878 )

• tubular lesions, primarily in the proximal tubules, are associated with glomerular lesions

• tubules are dilated and contain protein casts

dilated renal tubule ( J:152878 )

• focal

dilated proximal convoluted tubule ( J:152878 )

renal cast ( J:152878 )

• dilated proximal convoluted tubules contain protein casts

homeostasis/metabolism

increased circulating creatinine level ( J:152878 )

• at P4 but not at P12

increased blood urea nitrogen level ( J:152878 )

• at P4 and P12

albuminuria ( J:152878 )

• progressive albuminuria develops quickly after birth

cardiovascular system

abnormal glomerular capillary morphology ( J:152878 )

• at P12 mesangial sclerosis is present reducing the patency of capillary lumina

abnormal glomerular capillary endothelium morphology ( J:152878 )

• widening of the sub-endothelial spaces due to endothelial cell swelling is seen resulting in uneven glomerular capillary wall thickening

abnormal glomerular endothelium fenestra morphology ( J:152878 )

• endothelial fenestrae are frequently replaced by a continuous cytoplasmic layer lining the periphery of the capillary loops

dilated glomerular capillary ( J:152878 )

• at P4 focal dilations of capillary lumina are seen

kidney hemorrhage ( J:152878 )

• at P4 surface hemorrhages corresponding to focal areas of interstitial hemorrhages in the superficial cortex and juxtamedullary areas are seen in the kidneys